Canonical Allele Identifier: CA10568050

Gene: F8

Linked Data

• dbSNP Id: rs369708376
• ExAC: X:154157075 G / A
• gnomAD v2: X-154157075-G-A
• gnomAD v4: X-154928800-G-A
• COSMIC: COSM4682235 ; COSM4682236
• MyVariant Identifiers: chrX:g.154157075G>A (hg19) ; chrX:g.154928800G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154928800G>A , CM000685.2:g.154928800G>A	GRCh38
NC_000023.10:g.154157075G>A , CM000685.1:g.154157075G>A	GRCh37
NC_000023.9:g.153810269G>A	NCBI36
NG_011403.1:g.98924C>T
NG_011403.2:g.98924C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.4990C>T MANE Select	ENSP00000353393.4:p.Arg1664Cys
ENST00000360256.8:c.4990C>T	ENSP00000353393.4:p.Arg1664Cys
NM_000132.3:c.4990C>T	NP_000123.1:p.Arg1664Cys
XM_011531126.1:c.4885C>T	XP_011529428.1:p.Arg1629Cys
NM_000132.4:c.4990C>T MANE Select	NP_000123.1:p.Arg1664Cys